K24N (p.Lys24Asn) variant of VPS13C (Q709C8)
K24N (p.Lys24Asn) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- ExAC rs773485474
- gnomAD rs773485474
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.50
- MetaSVM -0.15
- CADD 21.70
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available